TY - JOUR
T1 - Cerebrovascular disease knowledge portal an open-access data resource to accelerate genomic discoveries in stroke
AU - Crawford, Katherine M.
AU - Gallego-Fabrega, Cristina
AU - Kourkoulis, Christina
AU - Miyares, Laura
AU - Marini, Sandro
AU - Flannick, Jason
AU - Burtt, Noel P.
AU - Von Grotthuss, Marcin
AU - Alexander, Benjamin
AU - Costanzo, Maria C.
AU - Vaishnav, Neil H.
AU - Malik, Rainer
AU - Hall, Jennifer L.
AU - Chong, Michael
AU - Rosand, Jonathan
AU - Falcone, Guido J.
N1 - Publisher Copyright:
© 2018 American Heart Association, Inc.
PY - 2018
Y1 - 2018
N2 - Stroke is a leading cause of death and disability across the globe, affecting 15 million people each year.1 Stroke represents an archetypical common complex disease with both genetic and environmental determinants2,3 playing a role in its occurrence. The proportion of stroke risk that can be attributed to genetic variation has been estimated to be 30%.4-6 Although this estimate provides an indication of the overall importance of genetic variation in stroke, the key to developing new treatment strategies is to identify the specific genetic variants (mutations) that modify an individual's risk of stroke. Genetic association studies (GWAS) seek to identify these variants and link them to specific genes, which, in turn, point to specific cellular processes to become therapeutic targets for drug development. In addition, newly discovered genetic risk loci can be used to improve existing phenotyping systems, enhance prediction tools aimed to identify high-risk patients, and aid in establishing causality for associations involving nongenetic exposures. Successfully identifying the range of genetic variants that cause stroke and leveraging these discoveries to reduce the suffering caused by this condition requires overcoming several key challenges. First, stroke is the final result of multiple different pathological processes and must, therefore, be accurately subtyped to identify underlying biology. Second, because large number of cases and controls are required to identify the culprit genetic variants, tens (even hundreds) of thousands of cases must be studied, requiring the collaboration of multiple centers, many of which use different ascertainment methods and criteria. Third, because genetic variation differs across the globe, representative populations from all ethnicities must be studied. Finally, all these data must be shared rapidly and widely to ensure the most expedited progress in research and enable investigators with the brightest ideas to utilize these data provided by patients to facilitate stroke research. The Cerebrovascular Disease Knowledge Portal (CDKP) has been created by the International Stroke Genetics Consortium (ISGC) to overcome these challenges and enable data sharing as freely and rapidly as possible.
AB - Stroke is a leading cause of death and disability across the globe, affecting 15 million people each year.1 Stroke represents an archetypical common complex disease with both genetic and environmental determinants2,3 playing a role in its occurrence. The proportion of stroke risk that can be attributed to genetic variation has been estimated to be 30%.4-6 Although this estimate provides an indication of the overall importance of genetic variation in stroke, the key to developing new treatment strategies is to identify the specific genetic variants (mutations) that modify an individual's risk of stroke. Genetic association studies (GWAS) seek to identify these variants and link them to specific genes, which, in turn, point to specific cellular processes to become therapeutic targets for drug development. In addition, newly discovered genetic risk loci can be used to improve existing phenotyping systems, enhance prediction tools aimed to identify high-risk patients, and aid in establishing causality for associations involving nongenetic exposures. Successfully identifying the range of genetic variants that cause stroke and leveraging these discoveries to reduce the suffering caused by this condition requires overcoming several key challenges. First, stroke is the final result of multiple different pathological processes and must, therefore, be accurately subtyped to identify underlying biology. Second, because large number of cases and controls are required to identify the culprit genetic variants, tens (even hundreds) of thousands of cases must be studied, requiring the collaboration of multiple centers, many of which use different ascertainment methods and criteria. Third, because genetic variation differs across the globe, representative populations from all ethnicities must be studied. Finally, all these data must be shared rapidly and widely to ensure the most expedited progress in research and enable investigators with the brightest ideas to utilize these data provided by patients to facilitate stroke research. The Cerebrovascular Disease Knowledge Portal (CDKP) has been created by the International Stroke Genetics Consortium (ISGC) to overcome these challenges and enable data sharing as freely and rapidly as possible.
KW - Cause of death
KW - Cerebral hemorrhage
KW - Humans
KW - Research
KW - Stroke
UR - http://www.scopus.com/inward/record.url?scp=85044091007&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85044091007&partnerID=8YFLogxK
U2 - 10.1161/STROKEAHA.117.018922
DO - 10.1161/STROKEAHA.117.018922
M3 - Article
C2 - 29335331
AN - SCOPUS:85044091007
SN - 0039-2499
VL - 49
SP - 470
EP - 475
JO - Stroke
JF - Stroke
IS - 2
ER -